Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

DNA Methylation in the Diagnosis of Monogenic Diseases.

Genes - 26 Mar 2020

Cerrato Flavia, Sparago Angela, Ariani Francesca, Brugnoletti Fulvia, Calzari Luciano, Coppedè Fabio, De Luca Alessandro, Gervasini Cristina, Giardina Emiliano, Gurrieri Fiorella, Lo Nigro Cristiana, Merla Giuseppe, Miozzo Monica, Russo Silvia, Sangiorgi Eugenio, Sirchia Silvia M, Squeo Gabriella Maria, Tabano Silvia, Tabolacci Elisabetta, Torrente Isabella, Genuardi Maurizio, Neri Giovanni, Riccio Andrea

Abstract excerpt

DNA methylation in the human genome is largely programmed and shaped by transcription factor binding and interaction between DNA methyltransferases and histone marks during gamete and embryo development. Normal methylation profiles can be modified at single or multiple loci, more frequently as consequences of genetic variants acting in cis or in trans, or in some cases stochastically or through interaction with...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to DNA Methylation
Share to Epigenomics

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Diseases, Inborn

Share to Genome, Human

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 32224912
DOI: 10.3390/genes11040355
PMCID: PMC7231024

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

DNA Methylation in the Diagnosis of Monogenic Diseases.PMID 32224912Read ↗

Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseasesSemantic proximity Read ↗

A Summary of the Biological Processes, Disease-Associated Changes, and Clinical Applications of DNA Methylation.Semantic proximity Read ↗

Identification of genetic and non-genetic modifiers of genomic imprinting through whole genome screening in humansSemantic proximity Read ↗

Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes.Semantic proximity Read ↗

DNA methylation signatures for chromatinopathies: current challenges and future applications.Semantic proximity Read ↗

Functional variation in allelic methylomes underscores a strong genetic contribution and reveals novel epigenetic alterations in the human epigenome.Semantic proximity Read ↗

DNA Methylation in the Fields of Prenatal Diagnosis and Early Detection of CancersSemantic proximity Read ↗

[Genetic diseases of epigenetic machinery].Semantic proximity Read ↗

Identifying novel disease genes and revealing the pathomechanism of monogenic diseases.Semantic proximity Read ↗

Integrating genomic and epigenomic information: a promising strategy for identifying functional DNA variants of human disease.Semantic proximity Read ↗

SNP-guided identification of monoallelic DNA-methylation events from enrichment-based sequencing data.Semantic proximity Read ↗

Genetic impacts on DNA methylation: research findings and future perspectives.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.